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Adeline Vanderver

Showing results (41-50 of 217) with videos related to

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Journal of Genetic Counseling|April 30, 2014
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical reportJessica E King, Amy Dexter, Inder Gadi, et al.
Immunological Reviews|October 30, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to benchMarkus J Hofer, Nicholson Modesti, Nicole G Coufal, et al.
Stem Cell Research|January 5, 2024
Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1Luis Garcia, Carlos Dominguez Gonzalez, Alyssa Gagne, et al.
Cold Spring Harbor Molecular Case Studies|November 5, 2021
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the <i>COL2A1</i> gene in an individual with Pol III-related leukodystrophy and Feingold syndromeKayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, et al.
Molecular Genetics and Metabolism|December 29, 2024
Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespanSylvia Mutua, Anjana Sevagamoorthy, Sarah Woidill, et al.
Rheumatology (Oxford, England)|December 1, 2021
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndromeDídac Casas-Alba, Alejandra Darling, Eva Caballero, et al.
American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.
Journal of Proteome Research|April 26, 2008
Time series proteome profiling to study endoplasmic reticulum stress responseMichelle Mintz, Adeline Vanderver, Kristy J Brown, et al.
Developmental Medicine and Child Neurology|April 30, 2026
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophyStacy V Cusack, Allan M Glanzman, Francesco Gavazzi, et al.
Pediatric Neurology|October 15, 2013
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsyAdeline Vanderver, Cas Simons, Johanna L Schmidt, et al.
Pageof 22

Showing results (41-50 of 217) with videos related to

Sort By:
Pageof 22
Journal of Genetic Counseling|April 30, 2014
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical reportJessica E King, Amy Dexter, Inder Gadi, et al.
Immunological Reviews|October 30, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to benchMarkus J Hofer, Nicholson Modesti, Nicole G Coufal, et al.
Stem Cell Research|January 5, 2024
Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1Luis Garcia, Carlos Dominguez Gonzalez, Alyssa Gagne, et al.
Cold Spring Harbor Molecular Case Studies|November 5, 2021
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the <i>COL2A1</i> gene in an individual with Pol III-related leukodystrophy and Feingold syndromeKayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, et al.
Molecular Genetics and Metabolism|December 29, 2024
Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespanSylvia Mutua, Anjana Sevagamoorthy, Sarah Woidill, et al.
Rheumatology (Oxford, England)|December 1, 2021
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndromeDídac Casas-Alba, Alejandra Darling, Eva Caballero, et al.
American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.
Journal of Proteome Research|April 26, 2008
Time series proteome profiling to study endoplasmic reticulum stress responseMichelle Mintz, Adeline Vanderver, Kristy J Brown, et al.
Developmental Medicine and Child Neurology|April 30, 2026
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophyStacy V Cusack, Allan M Glanzman, Francesco Gavazzi, et al.
Pediatric Neurology|October 15, 2013
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsyAdeline Vanderver, Cas Simons, Johanna L Schmidt, et al.
Pageof 22